Varaico: Literature-Extracted Genetic Variants

Gene:TNNC1
Variant:p.E59D
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TNNC1

NM_003280.3:p.E59D

Associated Papers

Focus on cardiac troponin complex: From gene expression to cardiomyopathy.

Ragusa R et al.

Genes & Diseases, 2024

Mouse Models of Cardiomyopathies Caused by Mutations in Troponin C.

Tikunova SB et al.

International Journal of Molecular Sciences, 2023

A comprehensive guide to genetic variants and post-translational modifications of cardiac troponin C.

Reinoso TR et al.

Journal of Muscle Research and Cell Motility, 2021

Troponins, intrinsic disorder, and cardiomyopathy.

Na I et al.

Biological Chemistry, 2016

Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs.

Li MX et al.

Gene, 2015

Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.

Kalyva A et al.

Journal of Muscle Research and Cell Motility, 2014

Assessment of DNA damage using cytokinesis-block micronucleus cytome assay in lymphocytes of dilated cardiomyopathy patients.

Sitaraman S et al.

Genetics Research, 2014

Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.

Pinto JR et al.

The Journal of Biological Chemistry, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."